Open AccessHereditary Spastic Paraplegia Mimicking Cerebral Palsy-Heterozygous Mutation in ALDH18A1
Author(s) -
Amit S Vatkar,
Nisha Dolas,
Vedashree Deshpande,
Pallavi Wadhawan,
M. Anwar Sharif
Publication year - 2021
Publication title -
journal of clinical and diagnostic research
Language(s) - English
Resource type - Journals
eISSN - 2249-782X
pISSN - 0973-709X
DOI - 10.7860/jcdr/2021/49813.15390
Subject(s) - hereditary spastic paraplegia , spastic diplegia , diplegia , medicine , spastic quadriplegia , spasticity , paraplegia , spastic , mutation , compound heterozygosity , cerebral palsy , pediatrics , genetics , physical medicine and rehabilitation , gene , biology , phenotype , spinal cord , psychiatry
Spastic paraplegias are characterised by progressive rigidity and weakness of the lower limbs. Spastic paraplegia is a standard differential diagnosis for spastic diplegic cerebral palsy. Hereditary Spastic Paraplegias (HSP) are genetically and clinically heterogeneous group of neurodegenerative disorders causing paraplegias. Eighty forms of HSP have been noted and 64 genes have been identified. The Aldehyde Dehydrogenase 18 family member A1 (ALDH18A1) gene is located at 10q24.1 and it encodes delta-1-Pyrroline-5-Carboxylate Synthetase (P5CS), a mitochondrial bifunctional enzyme which is used for catalysing various amino acids. Mutations in this gene causes P5CS deficiency, which is responsible for neurodegenerative diseases. One should suspect neurometabolic conditions when no definite history of birth asphyxia is present in a case of cerebral palsy. Hereby, the authors report a case of a one-year-old male child with heterozygous mutation in ALDH18A1 gene resulting in spastic diplegia.